Although sporadic primary neoplasms account for the majority of nervous system tumors, familial nervous system tumor syndromes are important and clinically relevant conditions for the neurologist to understand. This article reviews common inherited nervous system tumor syndromes including neurofibromatosis type 1, neurofibromatosis type 2, schwannomatosis, tuberous sclerosis complex, and von Hippel-Lindau syndrome. The epidemiology, genetics, approach to diagnosis, neurologic and nonneurologic manifestations, and management options are reviewed.
Awareness of the more common and clinically relevant familial nervous system tumor syndromes is important. These conditions teach us about the underlying biology that drives tumor development in the central and peripheral nervous systems including peripheral nerve sheath tumors (eg, neurofibroma, schwannoma), meningioma, vestibular schwannoma, subependymal giant cell astrocytoma, and hemangioblastoma. Knowledge of the clinical manifestations ensures that the neurologist will be able to diagnose these conditions, recommend appropriate surveillance, refer to specialists, and support optimal management. Important discoveries in the role of the underlying genetics have contributed to the launch of several novel drug trials for these tumors, which are changing therapeutic options for patients.
Familial nervous system tumor syndromes are uncommon conditions that require specialized surveillance and management strategies. Coordination across a multidisciplinary team that includes neurologists, neuro-oncologists, radiologists, neurosurgeons, radiation oncologists, otolaryngologists, pathologists, neuropsychologists, physical medicine and rehabilitation specialists, and geneticists is necessary for the optimal treatment of these patients.